Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373329G>A , CM000672.2:g.133373329G>A | GRCh38 |
| NC_000010.10:g.135186833G>A , CM000672.1:g.135186833G>A | GRCh37 |
| NC_000010.9:g.135036823G>A | NCBI36 |
| NG_042077.1:g.5076C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004092.4:c.5C>T MANE Select | NP_004083.3:p.Ala2Val |
| ENST00000368547.4:c.5C>T MANE Select | ENSP00000357535.3:p.Ala2Val |
| NM_004092.3:c.5C>T | NP_004083.3:p.Ala2Val |
| ENST00000368547.3:c.5C>T | ENSP00000357535.3:p.Ala2Val |
| XR_002956965.1:n.68C>T |